Linked Data
ClinVar Variation Id:
2742708
ClinVar RCV Id:
RCV003497616
dbSNP Id:
rs750733971
ExAC:
8:100026181 CAT / C
gnomAD v2:
8-100026181-CAT-C
gnomAD v3:
8-99013953-CAT-C
gnomAD v4:
8-99013953-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99013954_99013955del , CM000670.2:g.99013954_99013955del | GRCh38 |
| NC_000008.10:g.100026182_100026183del , CM000670.1:g.100026182_100026183del | GRCh37 |
| NC_000008.9:g.100095358_100095359del | NCBI36 |
| NG_007098.2:g.5689_5690del , LRG_351:g.5689_5690del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.147+19_147+20del | ENSP00000347281.2:n.147+19_147+20del | |
| ENST00000682145.1:n.216+19_216+20del | ||
| ENST00000682153.1:c.147+19_147+20del | ENSP00000507923.1:n.147+19_147+20del | |
| ENST00000682234.1:c.147+19_147+20del | ENSP00000508225.1:n.147+19_147+20del | |
| ENST00000682358.1:n.217+19_217+20del | ||
| ENST00000682806.1:n.248+19_248+20del | ||
| ENST00000682853.1:n.252+19_252+20del | ||
| ENST00000683334.1:c.147+19_147+20del | ENSP00000507369.1:n.147+19_147+20del | |
| ENST00000683486.1:n.213+19_213+20del | ||
| ENST00000683619.1:n.250+19_250+20del | ||
| ENST00000683869.1:n.228+19_228+20del | ||
| ENST00000684269.1:n.248+19_248+20del | ||
| ENST00000684308.1:n.213+19_213+20del | ||
| ENST00000357162.7:c.147+19_147+20del MANE Select | ENSP00000349685.2:n.147+19_147+20del | |
| ENST00000358544.7:c.147+19_147+20del MANE Plus Clinical | ENSP00000351346.2:n.147+19_147+20del | |
| ENST00000355155.5:c.147+19_147+20del | ENSP00000347281.1:n.147+19_147+20del | |
| ENST00000357162.6:c.147+19_147+20del | ENSP00000349685.2:n.147+19_147+20del | |
| ENST00000358544.6:c.147+19_147+20del | ENSP00000351346.2:n.147+19_147+20del | |
| ENST00000441350.2:c.147+19_147+20del | ENSP00000398472.2:n.147+19_147+20del | |
| ENST00000496144.5:c.147+19_147+20del | ENSP00000430900.1:n.147+19_147+20del | |
| NM_015243.2:c.147+19_147+20del , LRG_351t3:c.147+19_147+20del | NP_056058.2:n.147+19_147+20del | |
| NM_017890.4:c.147+19_147+20del , LRG_351t1:c.147+19_147+20del | NP_060360.3:n.147+19_147+20del | |
| NM_152564.4:c.147+19_147+20del , LRG_351t2:c.147+19_147+20del | NP_689777.3:n.147+19_147+20del | |
| NM_181661.2:c.147+19_147+20del , LRG_351t4:c.147+19_147+20del | NP_858047.2:n.147+19_147+20del | |
| NR_047582.1:n.258+19_258+20del | ||
| XM_005250800.2:c.147+19_147+20del | XP_005250857.1:n.147+19_147+20del | |
| XM_005250801.3:c.147+19_147+20del | XP_005250858.1:n.147+19_147+20del | |
| XM_006716510.2:c.147+19_147+20del | XP_006716573.1:n.147+19_147+20del | |
| XM_006716511.2:c.147+19_147+20del | XP_006716574.1:n.147+19_147+20del | |
| XM_011516848.1:c.147+19_147+20del | XP_011515150.1:n.147+19_147+20del | |
| XM_011516849.1:c.147+19_147+20del | XP_011515151.1:n.147+19_147+20del | |
| XM_011516853.1:c.147+19_147+20del | XP_011515155.1:n.147+19_147+20del | |
| XM_011516855.1:c.147+19_147+20del | XP_011515157.1:n.147+19_147+20del | |
| XM_011516856.1:c.147+19_147+20del | XP_011515158.1:n.147+19_147+20del | |
| XM_011516857.1:c.147+19_147+20del | XP_011515159.1:n.147+19_147+20del | |
| XM_011516858.1:c.147+19_147+20del | XP_011515160.1:n.147+19_147+20del | |
| XM_011516859.1:c.147+19_147+20del | XP_011515161.1:n.147+19_147+20del | |
| XM_011516860.1:c.147+19_147+20del | XP_011515162.1:n.147+19_147+20del | |
| XM_011516861.1:c.147+19_147+20del | XP_011515163.1:n.147+19_147+20del | |
| XM_011516862.1:c.147+19_147+20del | XP_011515164.1:n.147+19_147+20del | |
| XM_011516863.1:c.147+19_147+20del | XP_011515165.1:n.147+19_147+20del | |
| XM_011516864.1:c.147+19_147+20del | XP_011515166.1:n.147+19_147+20del | |
| XM_011516865.1:c.147+19_147+20del | XP_011515167.1:n.147+19_147+20del | |
| XM_011516866.1:c.147+19_147+20del | XP_011515168.1:n.147+19_147+20del | |
| XR_928301.1:n.250+19_250+20del | ||
| XR_928302.1:n.250+19_250+20del | ||
| XR_928303.1:n.250+19_250+20del | ||
| XR_928304.1:n.250+19_250+20del | ||
| XM_005250800.3:c.147+19_147+20del | XP_005250857.1:n.147+19_147+20del | |
| XM_005250801.5:c.147+19_147+20del | XP_005250858.1:n.147+19_147+20del | |
| XM_006716510.3:c.147+19_147+20del | XP_006716573.1:n.147+19_147+20del | |
| XM_011516848.2:c.147+19_147+20del | XP_011515150.1:n.147+19_147+20del | |
| XM_011516849.2:c.147+19_147+20del | XP_011515151.1:n.147+19_147+20del | |
| XM_011516853.2:c.147+19_147+20del | XP_011515155.1:n.147+19_147+20del | |
| XM_011516859.2:c.147+19_147+20del | XP_011515161.1:n.147+19_147+20del | |
| XM_011516866.2:c.147+19_147+20del | XP_011515168.1:n.147+19_147+20del | |
| XM_017013109.1:c.147+19_147+20del | XP_016868598.1:n.147+19_147+20del | |
| XM_024447074.1:c.-1181+19_-1181+20del | XP_024302842.1:n.-1181+19_-1181+20del | |
| XM_024447075.1:c.147+19_147+20del | XP_024302843.1:n.147+19_147+20del | |
| XR_001745481.1:n.250+19_250+20del | ||
| XR_001745482.2:n.250+19_250+20del | ||
| XR_001745484.2:n.250+19_250+20del | ||
| XR_002956601.1:n.250+19_250+20del | ||
| XR_002956602.1:n.250+19_250+20del | ||
| XR_928302.2:n.250+19_250+20del | ||
| NM_015243.3:c.147+19_147+20del | NP_056058.2:n.147+19_147+20del | |
| NM_017890.5:c.147+19_147+20del MANE Plus Clinical | NP_060360.3:n.147+19_147+20del | |
| NM_152564.5:c.147+19_147+20del MANE Select | NP_689777.3:n.147+19_147+20del | |
| NM_181661.3:c.147+19_147+20del | NP_858047.2:n.147+19_147+20del | |
| NR_047582.2:n.250+19_250+20del |